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proteinuria AND congenital Nephrotic

Nilufer Goknar, Gokhan Gundogdu, Mehmet Kucukkoc, Aysegul Dogan Demir, Aysel Vehapoglu, Faruk Oktem
Congenital nephrotic syndrome is a term used to describe a condition in babies who develop severe proteinuria and hypoalbuminaemia within their first three months of life. They generally have oedema and ascites from birth which, because of increased intra-abdominal pressure, can result in an umbilical hernia. The report presents a five-month old infant with congenital nephrotic syndrome who had spontaneous umbilical hernia rupture with evisceration. The approach to umbilical hernias is usually conservative, but in selected cases elective surgery may be indicated...
May 2017: JPMA. the Journal of the Pakistan Medical Association
Fatma Rabah, Khalid Al-Thihli, Mohamed El-Naggari, Ibtisam B Elnour
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Phenylalanine hydroxylase is the underlying deficient enzyme. If left untreated, growth failure, microcephaly, global developmental delay, seizures and severe intellectual impairment would characterize the clinical picture of PKU. On the other side of protein homeostasis lies nephrotic syndrome. It is a well-known quantitative defect due to significant proteinuria. Focal segmental glomerulosclerosis (FSGS) is a special congenital variant affecting children and adults...
April 7, 2017: Metabolic Brain Disease
Yugo Ito, Kan Katayama, Yukino Nishibori, Yoshihiro Akimoto, Akihiko Kudo, Ryota Kurayama, Ichiro Hada, Shohei Takahashi, Toru Kimura, Toshiyuki Fukutomi, Tomohisa Katada, Junichi Suehiro, Olga Beltcheva, Karl Tryggvason, Kunimasa Yan
Altered expression of nephrin underlies the pathophysiology of proteinuria in both congenital and acquired nephrotic syndrome. However, the epigenetic mechanisms of nephrin gene regulation remain elusive. Here, we show that Wolf-Hirschhorn syndrome candidate 1-like 1 long form (WHSC1L1-L) is a novel epigenetic modifier of nephrin gene regulation. WHSC1L1-L was associated with histone H3K4 and H3K36 in human embryonic kidney cells. WHSC1L1-L gene was expressed in the podocytes and functional protein product was detected in these cells...
February 22, 2017: American Journal of Physiology. Renal Physiology
Fang Wang, Yanqin Zhang, Jianhua Mao, Zihua Yu, Zhuwen Yi, Li Yu, Jun Sun, Xiuxiu Wei, Fangrui Ding, Hongwen Zhang, Huijie Xiao, Yong Yao, Weizhen Tan, Svjetlana Lovric, Jie Ding, Friedhelm Hildebrandt
BACKGROUND: The aim of this study was to elucidate whether genetic screening test results of pediatric patients with steroid-resistant nephrotic syndrome (SRNS) vary with ethnicity. METHODS: Using high-throughput DNA sequencing, 28 nephrotic syndrome-related genes were analyzed in 110 chil-dren affected by SRNS and 10 children with isolated proteinuria enrolled by 5 centers in China (67 boys, 53 girls). Their age at disease onset ranged from 1 day to 208 months (median, 48...
February 15, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Shabnam Bhandari Grover, Nishith Kumar, Hemal Grover, Dinesh Kumar Taneja, Amit Katyan
BACKGROUND: Common etiologies of scrotal swelling in neonates include hydrocoele, inguinal hernia and testicular torsion; less common is epididymo-orchitis. Congenital nephrotic syndrome (CNS), a rare entity, is known to present as progressive renal failure and its leading presentation with scrotal involvement has not been reported. MATERIAL/METHODS: We report a rare case of CNS with primary clinical presentation as scrotal cellulitis and epididymo-orchitis. In this neonate, scrotal and abdominal ultrasound examination was performed and the laboratory data were obtained...
2016: Polish Journal of Radiology
Laura Penna Rocha, Fabiano Bichuette Custódio, Juliana Reis Machado, Lívia Helena de Morais Pereira, Maria Luiza Gonçalves Dos Reis Monteiro, Valéria Lima Laterza, Marlene Antônia Dos Reis, Rosana Rosa Miranda Corrêa
Congenital or infantile nephrotic syndromes (CNS/INS) correspond to a heterogeneous group of rare diseases in which glomerular renal dysfunction and proteinuria are prominent. The aim of this study is to present six cases of possible CNS/INS with diagnoses based on clinical findings and especially histological, ultrastructural, and immunohistochemical characteristics of renal biopsies. Four cases are presented with diffuse mesangial sclerosis, one of them possibly part of Denys-Drash syndrome and two cases with CNS probably of the Finnish type in patients between 3 months old and 13 years old...
November 2016: Ultrastructural Pathology
Lidvana Spahiu, Besart Merovci, Haki Jashari, Arbnore Batalli Këpuska, Blerta Elezi Rugova
INTRODUCTION: Identification of the NPHS1 gene, which encodes nephrin, was followed by many studies demonstrating its mutation as a frequent cause of congenital nephrotic syndrome (CNS). While this gene is found in 98% of Finnish children with this syndrome, non-Finnish cases have lower level of incidence ranging from 39 to 80%. CASE REPORT: This report describes the clinical presentation of a two-week-old neonate who presented with periorbital and lower extremities edema, abdominal distention, heavy proteinuria, serum hypoproteinemia and failure to thrive...
June 2016: Medical Archives
Manuel Praga, Enrique Morales
Obesity-related glomerulopathy (ORG) is characterized by glomerulomegaly accompanied in many patients by lesions of focal and segmental glomerulosclerosis. Slowly increasing subnephrotic proteinuria is the commonest presentation of ORG. Occasionally, massive proteinuria (>5-10 g/day) is detected, but the typical findings of nephrotic syndrome are characteristically absent even in patients with massive proteinuria. Superimposed obesity can fuel the progression of other renal diseases, and a reduced number of functioning nephrons (of congenital or acquired causes) synergizes with obesity to induce end-stage renal disease...
July 15, 2016: Nephron
Lyndsay A Harshman, Bobby G Ng, Hudson H Freeze, Pamela Trapane, Anna Dolezal, Patrick D Brophy, Jane E Brumbaugh
Congenital nephrotic syndrome (NS) in the newborn is most frequently related to mutations in genes specific for structural integrity of the glomerular basement membrane and associated filtration structures within the kidney, resulting in massive leakage of plasma proteins into the urine. Occurrence of congenital NS in a multi-system syndrome is less common. We describe the case of an infant with deteriorating neurological status, seizures, edema, and proteinuria who was found to have a mutation in gene ALG1 and a renal biopsy consistent with congenital NS...
August 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
Yingjin Qiao, Anna-Lena Berg, Pei Wang, Yan Ge, Songxia Quan, Sijie Zhou, Hai Wang, Zhangsuo Liu, Rujun Gong
Melanocortin therapy by using adrenocorticotropic hormone (ACTH) or non-steroidogenic melanocortin peptides attenuates proteinuria and glomerular injury in experimental glomerular diseases and induces remission of nephrotic syndrome in patients with diverse glomerulopathies, even those resistant to steroids. The underlying mechanism remains elusive, but the role of melanocortin 1 receptor (MC1R) has been implicated and was examined here. Four patients with congenital red hair color and nephrotic syndrome caused by idiopathic membranous nephropathy or focal segmental glomerulosclerosis were confirmed by gene sequencing to bear dominant-negative MC1R mutations...
2016: Scientific Reports
Z Huang, L Zhang, Y Chen, H Zhang, Q Zhang, R Li, J Ma, Z Li, C Yu, Y Lai, T Lin, X Zhao, B Zhang, Z Ye, S Liu, W Wang, X Liang, R Liao, W Shi
Podocyte apoptosis is a major mechanism that leads to proteinuria in many chronic kidney diseases. However, the concert mechanisms that cause podocyte apoptosis in these kidney diseases are not fully understood. The Rho family of small GTPases has been shown to be required in maintaining podocyte structure and function. Recent studies have indicated that podocyte-specific deletion of Cdc42 in vivo, but not of RhoA or Rac1, leads to congenital nephrotic syndrome and glomerulosclerosis. However, the underlying cellular events in podocyte controlled by Cdc42 remain unclear...
March 17, 2016: Cell Death & Disease
Jing-Jing Wang, Jian-Hua Mao
BACKGROUND: Congenital nephrotic syndrome (CNS), defined as heavy proteinuria, hypoalbuminemia, hyperlipidemia and edema presenting in the first 0-3 months of life, may be caused by congenital syphilis, toxoplasmosis, or congenital viral infections (such as cytomegalovirus). However, the majority of CNS cases are caused by monogenic defects of structural proteins that form the glomerular filtration barrier in the kidneys. Since 1998, an increasing number of genetic defects have been identified for their involvements in the pathogenesis of CNS, including NPHS1, NPHS2, WT1, PLCE1, and LAMB2...
May 2016: World Journal of Pediatrics: WJP
Anja K Büscher, Bodo B Beck, Anette Melk, Julia Hoefele, Birgitta Kranz, Daniel Bamborschke, Sabrina Baig, Bärbel Lange-Sperandio, Theresa Jungraithmayr, Lutz T Weber, Markus J Kemper, Burkhard Tönshoff, Peter F Hoyer, Martin Konrad, Stefanie Weber
BACKGROUND AND OBJECTIVES: Treatment of congenital nephrotic syndrome (CNS) and steroid-resistant nephrotic syndrome (SRNS) is demanding, and renal prognosis is poor. Numerous causative gene mutations have been identified in SRNS that affect the renal podocyte. In the era of high-throughput sequencing techniques, patients with nongenetic SRNS frequently escape the scientific interest. We here present the long-term data of the German CNS/SRNS Follow-Up Study, focusing on the response to cyclosporin A (CsA) in patients with nongenetic versus genetic disease...
February 5, 2016: Clinical Journal of the American Society of Nephrology: CJASN
Matthias Wuttke, Maximilian Seidl, Angelica Malinoc, Friedrich C Prischl, E Wolfgang Kuehn, Gerd Walz, Anna Köttgen
COL4A5 mutations are a known cause of Alport syndrome, which typically manifests with haematuria, hearing loss and ocular symptoms. Here we report on a 16-year-old male patient with a negative family history who presented with proteinuria, progressive renal failure and haemolysis, but without overt haematuria or hearing loss. A renal biopsy revealed features of atypical IgA nephropathy, while a second biopsy a year later showed features of focal segmental glomerulosclerosis, but was finally diagnosed as chronic thrombotic microangiopathy...
December 2015: Clinical Kidney Journal
Mara S Guaragna, Thaís Lira Cleto, Marcela Lopes Souza, Anna Cristina G B Lutaif, Luiz Cláudio Gonçalves de Castro, Maria Goretti Moreira Guimarães Penido, Andréa T Maciel-Guerra, Vera M S Belangero, Gil Guerra-Junior, Maricilda P De Mello
AIM: Autosomal recessive mutations in NPHS1 gene are a common cause of congenital nephrotic syndrome (CNS). The disorder is characterized by massive proteinuria that manifests in utero or in the neonatal period during the first 3 months of life. NPHS1 encodes nephrin, a member of the immunoglobulin family of cell adhesion molecules and the main protein expressed at the renal slit diaphragm. Currently, there are approximately 250 mutations described in the NPHS1 gene distributed among all nephrin domains...
September 2016: Nephrology
Nobuhiko Okamoto, Sawako Fukazawa, Masafumi Shimamoto, Rie Yamamoto, Yuichiro Fukazawa
We present a case of a 75-year-old man with nephrotic syndrome and renal insufficiency caused by immune complex-mediated secondary membranoproliferative glomerulonephritis. He developed hepatic encephalopathy. A congenital portosystemic shunt was identified, indicating a diagnosis of membranoproliferative glomerulonephritis with noncirrhotic portosystemic shunt. Proteinuria resolved after shunt ratio reduction by percutaneous transhepatic portal vein embolization. Renal function and histopathological findings improved without immunosuppressive therapy...
June 2009: NDT Plus
Yogavijayan Kandasamy, Roger Smith, Eugenie R Lumbers, Donna Rudd
Nephrin is a 180 KD trans-membrane protein expressed in glomerular podocytes. It was first identified in children with congenital nephrotic syndrome of the Finnish type (NPHS1). Nephrin forms an integral part of podocytes, which-together with endothelial cells and the basement-form the glomerular filtration barrier. Podocytopathies result in the detection of nephrin in the urine. We reviewed the literature to determine if urine nephrin measurements could become useful as a biomarker to detect early podocyte injury...
2014: Biomarker Research
R Fu, M F Gou, W H Ma, J J He, Y Luan, J Liu
Congenital nephrotic syndrome (CNS) is defined as heavy proteinuria or nephrotic syndrome occurring before 3 months of age. It is characterized by early onset and progresses to end-stage renal disease. Recently, several genes associated with CNS have been identified, including NPHS1 and NPHS2. Mutations in the NPHS1 gene have been identified in patients with CNS in Finland with relatively high frequency. Thus far, only a few case reports about CNS have described an NPHS1 mutation in China. In this study, mutational analyses of NPHS1 and NPHS2 were performed in a Chinese child with CNS...
2015: Genetics and Molecular Research: GMR
Berfin Uysal, Osman Dönmez, Fahrettin Uysal, Okan Akacı, Berna Aytaç Vuruşkan, Afig Berdeli
Congenital nephrotic syndrome (CNS) is a rare disease inherited as an autosomally recessive trait and defined as proteinuria manifesting at birth or in the first 3 months of life. The classical form is the Finnish type of CNS (CNF), which is caused by mutations in the nephrin gene (NPHS1). The classical findings include prematurity, large placenta and massive proteinuria. Minor cardiac findings have been reported as a minor functional disorder but CNS with major cardiac malformation is rare. Here we report the case of a Turkish child with CNS with small indel mutation (c...
2015: Pediatrics International: Official Journal of the Japan Pediatric Society
Agnes Trautmann, Monica Bodria, Fatih Ozaltin, Alaleh Gheisari, Anette Melk, Marta Azocar, Ali Anarat, Salim Caliskan, Francesco Emma, Jutta Gellermann, Jun Oh, Esra Baskin, Joanna Ksiazek, Giuseppe Remuzzi, Ozlem Erdogan, Sema Akman, Jiri Dusek, Tinatin Davitaia, Ozan Özkaya, Fotios Papachristou, Agnieszka Firszt-Adamczyk, Tomasz Urasinski, Sara Testa, Rafael T Krmar, Lidia Hyla-Klekot, Andrea Pasini, Z Birsin Özcakar, Peter Sallay, Nilgun Cakar, Monica Galanti, Joelle Terzic, Bilal Aoun, Alberto Caldas Afonso, Hanna Szymanik-Grzelak, Beata S Lipska, Sven Schnaidt, Franz Schaefer
BACKGROUND AND OBJECTIVES: Steroid-resistant nephrotic syndrome is a rare kidney disease involving either immune-mediated or genetic alterations of podocyte structure and function. The rare nature, heterogeneity, and slow evolution of the disorder are major obstacles to systematic genotype-phenotype, intervention, and outcome studies, hampering the development of evidence-based diagnostic and therapeutic concepts. To overcome these limitations, the PodoNet Consortium has created an international registry for congenital nephrotic syndrome and childhood-onset steroid-resistant nephrotic syndrome...
April 7, 2015: Clinical Journal of the American Society of Nephrology: CJASN
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